Resumen del producto

Abstract: Cystic fibrosis (CF) is a multisystem, progressive, chronic and hereditary disease caused by mutations in the gene that encodes the cystic fibrosis transmembrane conductance regulatory protein (CFTR). In Latin America there are various studies that demonstrate the frequency of these mutations, evidencing a notable difference in their distribution according to the population. In general, the Phe508del mutation is the most common. In Colombia, there are few studies that determine the frequency of this mutation both in patients with CF, and especially in the general population, which is why it is essential to determine the frequency of these mutations in a particular population. Especially in towns like the city of Barranquilla, which has a long history of immigrants from many regions of the world, such as Arabs, Spanish, Italians, different African countries and recent migrations from neighboring countries. The execution of this project contributes to achieving the sustainable development objectives of Health and well-being, framed in the 2030 Global Agenda, since it will provide preliminary information for decision-making in the implementation of new action plans against this disease.

Abstract del producto

Abstract: Cystic fibrosis (CF) is a multisystem, progressive, chronic and hereditary disease caused by mutations in the gene that encodes the cystic fibrosis transmembrane conductance regulatory protein (CFTR). In Latin America there are various studies that demonstrate the frequency of these mutations, evidencing a notable difference in their distribution according to the population. In general, the Phe508del mutation is the most common. In Colombia, there are few studies that determine the frequency of this mutation both in patients with CF, and especially in the general population, which is why it is essential to determine the frequency of these mutations in a particular population. Especially in towns like the city of Barranquilla, which has a long history of immigrants from many regions of the world, such as Arabs, Spanish, Italians, different African countries and recent migrations from neighboring countries. The execution of this project contributes to achieving the sustainable development objectives of Health and well-being, framed in the 2030 Global Agenda, since it will provide preliminary information for decision-making in the implementation of new action plans against this disease.

Palabras clave

Mutación, CFTR, ADN, amplificación, PCR.